Multidisciplinary Approaches for Diagnosing Underrecognized Transthyretin Amyloidosis in Real-World Practice

Area of Science:

• Cardiology
• Neurology
• Rare Diseases

Background:

• Transthyretin amyloidosis (ATTR) is a rare, progressive disease with varied symptoms causing diagnostic delays.
• Clinical manifestations of ATTR present challenges across cardiology and neurology subspecialties.

Purpose of the Study:

• To review ATTR clinical manifestations at diagnosis in cardiology and neurology.
• To identify common real-world red-flag symptoms for ATTR.

Main Methods:

• Analyzed 63 ATTR patients diagnosed between March 2018 and December 2024.
• Differentiated variant ATTR (ATTR-v) via genetic testing and wild-type ATTR (ATTR-wt) using specific diagnostic criteria.
• Utilized clinical assessments, ECG, and echocardiography for diagnosis.

Main Results:

• ATTR-wt diagnosed in cardiology; ATTR-v predominantly in neurology (Ala97Ser mutation common).
• Patients in both subspecialties showed significant cardiac and neurological involvement.
• Key red flags: peripheral neuropathy, autonomic dysfunction, discordant QRS voltages, bilateral carpal tunnel syndrome history.

Conclusions:

• Early ATTR detection hinges on recognizing red-flag symptoms.
• Clinical vigilance and interdisciplinary collaboration are crucial for timely ATTR diagnosis.